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GEMIN4

Synonyms
HC56, HCAP1, HHRF-1, NEDMCR, p97
External resources
Summary
The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
0
VUS
1,536
Likely benign
2,464
Benign
304

Patient phenotypes

Proportions of phenotypes among 17 patients carring pathogenic or likely pathogenic variants on GEMIN4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.4%
Abnormality of the cardiovascular system
23.5%
Abnormality of the nervous system
23.5%
Abnormality of the musculoskeletal system
17.6%
Abnormality of head or neck
11.8%
Abnormality of the digestive system
11.8%
Abnormality of the ear
11.8%
Abnormality of the immune system
11.8%
Abnormality of the respiratory system
11.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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